Canonical Allele Identifier: CA746031583

Gene: GNAS GNAS-AS1

Linked Data

• dbSNP Id: rs1373924247
• gnomAD v3: 20-58840594-TGCAC-T
• gnomAD v4: 20-58840594-TGCAC-T
• MyVariant Identifiers: chr20:g.57415650_57415653del (hg19) ; chr20:g.58840595_58840598del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58840597_58840600del , CM000682.2:g.58840597_58840600del	GRCh38
NC_000020.10:g.57415652_57415655del , CM000682.1:g.57415652_57415655del	GRCh37
NC_000020.9:g.56849047_56849050del	NCBI36
NG_016194.1:g.5858_5861del
NG_021433.1:g.15306_15309del
NG_016194.2:g.5858_5861del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419558.7:c.491_494del (GNAS)	ENSP00000416234.2:p.His164LeufsTer?
ENST00000453292.7:c.491_494del (GNAS)	ENSP00000392000.2:p.His164LeufsTer?
ENST00000419558.6:c.491_494del (GNAS)	ENSP00000416234.2:p.His164LeufsTer?
ENST00000453292.6:c.491_494del (GNAS)	ENSP00000392000.2:p.His164LeufsTer?
ENST00000657090.1:c.-39+657_-39+660del (GNAS)	ENSP00000499380.1:n.-39+657_-39+660del
ENST00000667293.1:c.-27-253_-27-250del (GNAS)	ENSP00000499293.1:n.-27-253_-27-250del
ENST00000313949.11:c.491_494del (GNAS)	ENSP00000323571.7:p.His164LeufsTer?
ENST00000371075.7:c.491_494del (GNAS) MANE Plus Clinical	ENSP00000360115.3:p.His164LeufsTer?
ENST00000371098.6:c.491_494del (GNAS)	ENSP00000360139.2:p.His164LeufsTer?
ENST00000419558.5:c.94_97del (GNAS)
ENST00000453292.5:c.254_257del (GNAS)	ENSP00000392000.1:p.His85LeufsTer?
NM_016592.2:c.491_494del (GNAS)	NP_057676.1:p.His164LeufsTer?
NM_016592.3:c.491_494del (GNAS)	NP_057676.1:p.His164LeufsTer?
NR_002785.2:n.819+1339_819+1342del (GNAS-AS1)
XM_017027821.1:c.491_494del (GNAS)	XP_016883310.1:p.His164LeufsTer?
XM_017027822.1:c.491_494del (GNAS)	XP_016883311.1:p.His164LeufsTer?
XM_024451872.1:c.-247_-244del (GNAS)	XP_024307640.1:n.-247_-244del
NM_016592.4:c.491_494del (GNAS)	NP_057676.1:p.His164LeufsTer?
NM_016592.5:c.491_494del (GNAS) MANE Plus Clinical	NP_057676.1:p.His164LeufsTer?